ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30328T>G (p.Trp10110Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002510037 SCV002818748 uncertain significance not provided 2023-01-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge; Located in a region of TTN within the I-band in which the majority of loss of function variants are significantly associated with autosomal dominant titinopathies (Deo et al., 2016; Schafer et al., 2017); This variant is associated with the following publications: (PMID: 27625338, 27869827)
Revvity Omics, Revvity RCV002510037 SCV004237011 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing

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